309 papers
Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.
At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.
The GREGoR Consortium developed a modular, interoperable data model to standardize multi-omic and phenotypic data across diverse clinical sites, successfully harmonizing information from over 12,000 participants to enable large-scale rare disease research and cross-study analysis.
The authors introduce KAS-CUT&Tag, a novel method combining N3-kethoxal labeling with CUT&Tag to directly map RNA Polymerase II transcription bubbles in vivo, revealing their distinct distribution across genes and specific enrichment at replication-dependent histone genes.
This paper introduces SelHap, a haplotype-based pipeline that prioritizes genomes for iterative pangenome expansion by explicitly targeting novel sequence content relative to an existing background, thereby maximizing the addition of non-redundant genetic information more effectively than current diversity-based strategies.
This study demonstrates that relying solely on sequence similarity for pangenome gene family identification introduces significant biases in evolutionary inferences, and recommends a two-step strategy combining graph-based orthology with sequence refinement to ensure accurate results.
This study demonstrates that the Evo 2 AI model achieves high accuracy in predicting the pathogenicity of cardiomyopathy-associated variants and elucidates their underlying molecular mechanisms by identifying key structural features and transcription factor binding motifs, offering a promising tool for resolving variants of uncertain significance in cardiovascular genetics.
This study utilizes VAST-TOOLS to reveal that dysregulated microexon splicing in human peripheral tissues (liver, lung, kidney, and colon) serves as a signature of broader cellular splicing homeostasis collapse rather than a primary disease driver, ultimately compromising protein interaction networks and contributing to chronic disease phenotypes.
This paper presents a gene model for the *Lst8* ortholog in *Drosophila yakuba*, characterized as part of a Genomics Education Partnership project to study the evolution of the Insulin/insulin-like growth factor signaling pathway across the *Drosophila* genus.
This review examines the evolution of fungal genomics over the past three decades, highlighting how long-read sequencing has improved assembly quality while identifying persistent taxonomic gaps and outlining key priorities for achieving comprehensive, high-quality genomic resources across the fungal kingdom.
This study utilizes paired transcriptomic and mucosal microbiome profiling from non-inflamed intestinal tissues of Crohn's disease patients to reveal that while immune and barrier pathways drive intestine-wide host-microbiome associations, the terminal ileum exhibits distinct, region-specific interactions involving metabolic and barrier maintenance pathways not observed in the large intestine.
This study generates an isogenic single-cell transcriptomic atlas of fourteen familial Parkinson's disease mutations to reveal how diverse genetic defects converge on mitochondrial, endolysosomal, and ferroptosis pathways to drive selective dopamine neuron degeneration, thereby bridging monogenic and sporadic disease mechanisms.